Potocki-lupski syndrome

Preferred Label : Potocki-lupski syndrome;

Symbol : PTLS;

CISMeF acronym : PTLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 17p11.2 duplication syndrome;

Description : Potocki-Lupski syndrome is a developmental disorder characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, and congenital anomalies. All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array comparative genomic hybridization (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.7-Mb microdeletion in SMS (summary by Shchelochkov et al., 2010).;

Inheritance : Isolated cases;

Molecular basis : Caused by interstitial duplication (3.7Mb) of 17p11.2;

Laboratory abnormalities : Decreased cholesterol (less common);

Prefixed ID : #610883;

Details

Origin ID

610883;

UMLS CUI

C2931246;

Currated CISMeF NLP mapping
- 17p11.2 microduplication syndrome [ORDO Disease]
- 17p11.2 microduplication syndrome (disorder) [SNOMED CT concept]
- Potocki-Lupski Syndrome [NCIt concept]
- Potocki-Lupski syndrome [DO Concept]
- Potocki-Lupski syndrome [ICD-11 More detail]
- Potocki-Lupski syndrome [MeSH concept]
- Potocki-Lupski syndrome [MeSH Supplementary Concept]
DO Cross reference
- Potocki-Lupski syndrome [DO Concept]
HPO term(s)
- Abnormal renal morphology [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Atrial septal defect [HPO term]
- Autism [HPO term]
- Broad forehead [HPO term]
- Delayed myelination [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphasia [HPO term]
- EEG abnormality [HPO term]
- Echolalia [HPO term]
- Epilepsy [HPO term]
- Expressive language delay [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypocholesterolemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability, mild [HPO term]
- Kidney malformation [HPO term]
- Language impairment [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Morphological central nervous system abnormality [HPO term]
- Oral-pharyngeal dysphagia [HPO term]
- Patent foramen ovale [HPO term]
- Poor eye contact [HPO term]
- Prominent jaw [HPO term]
- Prominent nasal tip [HPO term]
- Receptive language delay [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sleep apnea [HPO term]
- Sleep disturbance [HPO term]
- Small for gestational age [HPO term]
- Smooth philtrum [HPO term]
- Sporadic [HPO term]
- Stereotypical motor behaviors [HPO term]
- Triangular face [HPO term]
- Trigonocephaly [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- 17p11.2 microduplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17p11.2 microduplication syndrome [ORDO Disease]
- 17p11.2 microduplication syndrome (disorder) [SNOMED CT concept]
- Potocki-Lupski Syndrome [NCIt concept]
- Potocki-Lupski syndrome [MeSH concept]
- Potocki-Lupski syndrome [DO Concept]
- Potocki-Lupski syndrome [MeSH Supplementary Concept]

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